New Findings Hold Promise for Revolutionary Pre-Symptom Screening

I want to share my perspective on an important new research finding released today. The study is headed up by Joe Piven, at the University of North Carolina, Chapel Hill. I am a co-author. The study followed the early brain development of 92 infant siblings, 28 of whom went on to develop autism spectrum disorder (ASD). Infants were imaged using MRI at 6, 12 and 24 months. Those who later developed ASD showed abnormal development of white matter fiber tracts by 6 months. White matter is the part of the brain cell, or neuron, that connects one part of the brain to another. (See our related news item here.)

This finding tells us that, very early and before the emergence of behavioral symptoms, the neural networks that connect different brain regions are not developing normally in infant siblings who go on to develop autism. Previous studies of both children and adults have repeatedly shown that autism involves abnormal connectivity between different brain regions. In fact, my colleagues at the University of Washington and I did one of the first studies to show this.

Now we are seeing that these changes are evident by 6 months of age. Future research is needed to help us understand what is causing these early brain changes.

Why is this finding important? First, it helps us understand why people with autism have trouble with complex behaviors such as social interactions. Even simple social behaviors involve coordination of many brain systems. For instance, when something catches a baby’s interest, the normal response is a combination of gestures, babbling and eye contact. This requires several brain regions to communicate efficiently with one another.

Even more important, these results offer promise of using imaging results or other “biomarkers” to flag risk of ASD before symptoms become evident. In other conditions such as Alzheimer’s disease and Parkinson’s disease, such early biomarkers are being used to identify those at risk and allow treatment to start before symptoms appear – to maximize benefits.

We can imagine the day when noninvasive brain imaging is available for babies at high risk for autism (such as infant siblings of affected children). When the imaging reveals tell-tale abnormalities, these babies can receive medical or behavioral treatments that stimulate normal brain development. For example, a recent study by Marcel Just demonstrates that certain reading interventions for children with reading disabilities produce positive changes in the children’s brain white matter, or neural connectivity.

So, it’s reasonable to consider that some of the changes we are seeing in 6-month-old infants might likewise be improved through early intervention. Just’s study suggests that such “rewiring” may possible even later in life with interventions that support the connectivity between different brain regions.

Parents who are concerned that their baby might be at risk for autism may be wondering whether they should ask their doctor to order an MRI. The results published today are too preliminary for that. We are not recommending MRI screening for autism at this point. The best way to screen for autism at this time is to look for early behavioral signs (see Learn the Signs) and use screening tools such as the M-CHAT.

The research published today was funded in part by Autism Speaks and would not be possible without our community’s passionate and continuing support. Thank you.

Thank you to the researchers who conducted this important study. Next, as you point out, more research is needed to understand the cause of abnormal brain development. I have looked at the paper online at the Am J Psychiatry. Babies with perinatal difficulties were excluded from the study. I wonder, if next they looked at brain maturation in babies who did have a difficult birth, they might find a similar disruption of white matter maturation?

My second son had to be resuscitated at birth. We were relieved that his motor milestones were on time, but then it became clear that his language development was not normal. Monkeys subjected to asphyxia at birth appeared to recover, but ischemic damage of brainstem nuclei were found, especially in the auditory pathway, and surely this would interfere with language development in a human child.

Monkeys allowed to live for several months or years following asphyxia at birth were found to have abnormal maturation throughout the brain (see Faro & Windle, Exp Neurol. 1969 May;24[1]:38-53). Friauf & Lohmann (Cell Tissue Res. 1999 Aug;297[2]:187-95) also found that early injury of brainstem auditory nuclei disrupted production of trophic neurotransmitters required for normal development of target areas in the cerebral cortex.

Future research should also investigate white matter development in laboratory animals subjected to asphyxia at birth. Difficult birth has been reported in many studies of autistic children, but without consideration of how the brain is affected. And, over the past 3 decades clamping the umbilical cord immediately after birth has become a standard procedure in childbirth. This is physiologically very unsound. Infants who do not breathe immediately at birth will suffer a lapse in respiration, and this is quite unpredictable. Male infants, who have higher metabolism are more likely to suffer adverse effects. An Apgar score of 10 does not mean that no harm was done. The lungs take priority at birth, and blood will be drained from other organs to supply the capillaries surrounding the alveoli. If the blood is drained from the brain, ischemic injury will occur like that found in monkeys subjected to asphyxia.

I am glad to see “It’s time to listen” at the top of this blog. I chose family over a research career, but have spent the past 45 years looking for evidence in the medical literature relevant to language development. Faro and Windle were ahead of their time, but it is now time to go back and re-examine long-forgotten research like theirs.

Dear Dr. Dawson,
I am a clinical researcher and mother of a gorgeous smart 3.5 year old with a PDDNOS diagnosis who makes me beam with pride every day.
I am very appreciative of all of the Investigators, coordinators parents and volunteers who worked so hard to produce such an important study which produced such compelling and clear results.
I know firsthand of the complexities and challenges of implementing, recruiting, managing then analyzing such a trial.

Well done!

I am not an expert on autism but am a Mom with interactions in the autism parent community and have some questions and thoughts I’d like to share from that perspective. I am asking not just for myself but on behalf of some others who have already reacted to the data and are drawing conclusions for their own situation.
• Can you please make some comments about how generalizable these results are considered to be given that the sample was enriched already, perhaps comparing it to your earlier research using a more general population (random sample) if that was the case?
• If there is no similar research in a general population can you posit what considerations there might be in/before drawing conclusions for a general population of AS kids not in a familial group? Are there any?
• What would you say to a parent who reads this article and takes away the message that there is a ‘window for intervention’ (or somewhat less discouraging, an optimal window for most effective intervention?)
• If the last part may be true (if we are in fact learning there is an even earlier optimal window for most effective intervention) what would you tell parents with older children in the trenches every day? How can they apply any conclusions from this data to their child?
• Doesn’t this finding in fact reinforce the theory in support for intense intervention an applied learning at any young age?
I am only asking because I can imagine that some people may read this article and your perspective and come away with the key message of a lost opportunity for their child. I don’t believe this to be the case and believe this only reinforces the intervention argument at ages well past 5 if that is the situation of these families. I wonder if you can address this perception in your messages?

Again, thank you deeply for the amazing, rigorous work you do and continuing to progress the knowledge in this area- arming us with the ammunition we need to win this battle!
Sincerely, NJ MOM

This is Katie Wright. I have a severely affected 10 yr old. I think the findings are interesting but you bring up several important points. The study used babies who already have an ASD sib, thereby raising their risk of autism 10x the general population. There is not much applicability to the pop at large. Secondly, if you already have an ASD child it is, obviously, extremely important that you watch any siblings very closely. Chances are every mom is already doing this. Any signs that are concerning should be brought to your doctors attention ASAP. I took my baby to every one of my ASD son’s therapies, sat in the back and copied everything the therapist did.

Finally this isn’t all about the brain and pre determined factors out of your control! We know that over 50% of ASD is environmental. Get rid of all toxic cleaning products and flame retardants ASAP. If your child has adverse vaccine reactions I would pause for at least a few months and then go slowly one at time. Deidre Imus has a great web page on environmental health and kids. I found the tips very helpful and easy to implement. We cannot change our genes but we can alter or eliminate ASD triggers- now.

I wish i could have gotten a MRI for my son when i suspected autism at 8 months. He was diagnosed at 15 months. He is now almost 2. No one would listen or believe me that he was autistic even after the diagnosis, but now it is obvious to everyone. I have always known it was something from birth or an extremely young age, not vaccines etc. I wonder if this has any relation to the abnormal head growth in autistic children? Thank you for sharing this research.